Human type VII collagen: cDNA cloning and chromosomal mapping of the gene

Journal Article · Thu Aug 15 00:00:00 EDT 1991 · Proceedings of the National Academy of Sciences of the United States of America; (United States)

DOI:https://doi.org/10.1073/pnas.88.16.6931· OSTI ID:5602415

Parente, M G; Chung, L C; Ryynaenen, J; Chu, Monli; Uitto, J ^[1]; Woodley, D T; Wynn, K C; Bauer, E A ^[2]; Mattei, M G ^[3]

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1. Thomas Jefferson Univ., Philadelphia, PA (United States)
2. Stanford Univ., CA (United States)
3. Institute National de la Sante et de la Recherche Medicale, Marseille (France)

A human keratinocyte cDNA expression library in bacteriophage {lambda}gt11 was screened with the purified IgG fraction of serum from a patient with epidermolysis bullosa acquisita, which had a high titer of anti-type VII collagen antibodies. Screening of {approx}3 {times} 10{sup 5} plaques identified 8 positive clones, the largest one (K-131) being {approx}1.9 kilobases in size. Dideoxynucleotide sequencing of K-131 indicated that it consisted of 1875 base pairs and contained an open reading frame coding for a putative N-terminal noncollagenous domain of 439 amino acids and a collagenous domain was characterized by repeating Gly-Xaa-Yaa sequences that were interrupted in several positions by insertions or deletions of 1-3 amino acids. The deduced amino acid sequence also revealed a peptide segment that had a high degree of identity with a published type VII collagen protein sequence. The results mapped the COL7A1 to the locus 3p21. The cDNA clones characterized in this study will be valuable for understanding the protein structure and gene expression of type VII collagen present in anchoring fibrils and its aberrations in the dystrophic forms of heritable epidermolysis bullosa.

• OSTI ID: 5602415
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (United States), Journal Name: Proceedings of the National Academy of Sciences of the United States of America; (United States) Vol. 88:16; ISSN 0027-8424; ISSN PNASA
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
AMINO ACID SEQUENCE
BACTERIOPHAGES
BODY
CLONING
COLLAGEN
DNA
DNA HYBRIDIZATION
DNA SEQUENCING
DNA-CLONING
GENETIC MAPPING
HYBRIDIZATION
KERATIN
MAPPING
MICROORGANISMS
MOLECULAR STRUCTURE
NUCLEIC ACIDS
ORGANIC COMPOUNDS
ORGANS
PARASITES
PROTEINS
RECOMBINANT DNA
SCLEROPROTEINS
SKIN
STRUCTURAL CHEMICAL ANALYSIS
VIRUSES